A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979217



Internal ID53521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:17622417..17947406hg38UCSC Ensembl
chr6:17622648..17947637hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38324990
hg19324990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458538
Supporting Variants
Samples
Known GenesKIF13A, NUP153
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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